Heath, Simon C.

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

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Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 2,593

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

DIAGRAM Consortium, Dupuis, J., GIANT Consortium, Global BPgen Consortium, Anders Hamsten on behalf of Procardis Consortium, the MAGIC investigators, Langenberg, C., Prokopenko, I., Saxena, R., Soranzo, N., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,166

Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease

Clarke, R., Peden, J. F., Hopewell, J. C., Kyriakou, T., Goel, A., Heath, S. C., Parish, S., Barlera, S., Franzosi, M. G., Rust, S., et al. (2009) · New England Journal of Medicine

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 1,671

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., Heath, S. C., Timpson, N. J., Najjar, S. S., Stringham, H. M., et al. (2008) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 1,585

A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25

Hung, R. J., McKay, J. D., Gaborieau, V., Boffetta, P., Hashibe, M., Zaridze, D., Mukeria, A., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., et al. (2008) · Nature

Genetic Associations and EpidemiologySmoking Behavior and Cessation

Cited by 1,275

Genome-wide association study identifies eight loci associated with blood pressure

Wellcome Trust Case Control Consortium, Newton-Cheh, C., Johnson, T., Gateva, V., Tobin, M. D., Bochud, M., Coin, L., Najjar, S. S., Zhao, J. H., Heath, S. C., et al. (2009) · Nature Genetics

Genetic Associations and EpidemiologyBlood Pressure and Hypertension Studies

Cited by 1,215

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

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Distinct DNA methylomes of newborns and centenarians

Heyn, H., Li, N., Ferreira, H. J., Moran, S., Pisano, D. G., Gomez, A., Diez, J., Sanchez-Mut, J. V., Setien, F., Carmona, F. J., et al. (2012) · Proceedings of the National Academy of Sciences

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

Cited by 802

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15

Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., et al. (2007) · Nature Genetics

Hemoglobinopathies and Related DisordersGenetic Associations and Epidemiology

Cited by 529

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

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Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia

Liu, H., Heath, S. C., Sobin, C., Roos, J. L., Galke, B. L., Blundell, M. L., Lenane, M., Robertson, B., Wijsman, E. M., Rapoport, J. L., et al. (2002) · Proceedings of the National Academy of Sciences

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 323

A common variant on chromosome 11q13 is associated with atopic dermatitis

Esparza-Gordillo, J., Weidinger, S., Fölster-Holst, R., Bauerfeind, A., Ruschendorf, F., Patone, G., Rohde, K., Marenholz, I., Schulz, F., Kerscher, T., et al. (2009) · Nature Genetics

Dermatology and Skin DiseasesGenetic Associations and Epidemiology

Cited by 317

Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder

Cichon, S., Mühleisen, T. W., Degenhardt, F. A., Mattheisen, M., Miró, X., Strohmaier, J., Steffens, M., Meesters, C., Herms, S., Weingarten, M., et al. (2011) · The American Journal of Human Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 286

Clonal diversity of recurrently mutated genes in myelodysplastic syndromes

Walter, M. J., Shen, D., Shao, J., Ding, L., White, B. S., Kandoth, C., Miller, C. A., Niu, B., McLellan, M. D., Dees, N. D., et al. (2013) · Leukemia

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 284

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

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Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene

Kayser, M., Liu, F., Janssens, A. C. J. W., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M. M., van IJcken, W. F. J., et al. (2008) · The American Journal of Human Genetics

melanin and skin pigmentationGenetic Associations and Epidemiology

Cited by 260

Prespecified dose-response analysis for A Very Early Rehabilitation Trial (AVERT)

Bernhardt, J., Churilov, L., Ellery, F., Collier, J., Chamberlain, J., Langhorne, P., Lindley, R. I., Moodie, M., Dewey, H., Thrift, A. G., et al. (2016) · Neurology

Stroke Rehabilitation and RecoveryAcute Ischemic Stroke Management

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Comprehensive genome and epigenome characterization of CHO cells in response to evolutionary pressures and over time

Feichtinger, J., Hernández, I., Fischer, C., Hanscho, M., Auer, N., Hackl, M., Jadhav, V., Baumann, M., Krempl, P. M., Schmidl, C., et al. (2016) · Biotechnology and Bioengineering

Viral Infectious Diseases and Gene Expression in InsectsEpigenetics and DNA Methylation

Cited by 148

Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals

Lips, E. H., Gaborieau, V., McKay, J. D., Chabrier, A., Hung, R. J., Boffetta, P., Hashibe, M., Zaridze, D., Szeszenia-Dabrowska, N., Lissowska, J., et al. (2010) · International Journal of Epidemiology

Smoking Behavior and CessationGenetic Associations and Epidemiology

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